Living with Combined PSAP deficiency
A rare condition in newborns with severe nerve symptoms, seizures, low muscle tone and an enlarged liver and spleen.
Understanding Combined PSAP deficiency
Symptoms start at or soon after birth with severe nervous system problems, including seizures, sudden muscle jerks, low muscle tone, unusual eye movements and stiff or twisting muscles. The liver and spleen are enlarged. Tests show buildup of several fats (sphingolipids).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures (grand mal)
- Muscle jerks (myoclonus)
- Low muscle tone (hypotonia)
- Stiff, twisting muscles (dystonia)
- Unusual eye movements
- Enlarged liver and spleen
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PSAP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PSAP gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: combined prosaposin deficiency; combined sap deficiency; encephalopathy due to prosaposin deficiency; prosaposin deficiency; psapd
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined PSAP deficiency.
Explore research for Combined PSAP deficiency
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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